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AVIS INTERRUPTION DE SERVICE / SERVICE INTERRUPTION NOTIFICATION :
Nous devons procéder à une opération d'entretien du serveur Papyrus qui nécessitera une courte interruption de service le mardi 20 mars 2018 à partir de 8h30 HAE. Nous prévoyons un arrêt du service pour une période approximative de une à deux heures. Merci de votre compréhension. / We must perform a Papyrus server maintenance operation that will require a short service interruption on Tuesday, March 20, 2018 starting at 8:30 am EDT. We are expecting approximately one to two hours of down time during the maintenance. Thank you for your understanding.

Congenital myotonic syndromes due to mutations of the voltage-gated sodium channel Nav1.4 differ from those due to mutations of the chloride channel CLC-1 as they tend to present atypical traits including painful myotonias and aggravation of symptoms with cold and potassium ingestion. Indeed, after completing the clinical and molecular characterization of a large cohort of patients affected with these rare conditions in the Saguenay Lac-St-Jean area, we were able to describe a new founder SCN4A mutation presenting with painful cold-induced myotonias and occasional dystrophic and paralytic episodes. Our study illustrates the wide phenotypic variability and the typical traits of SCN4A mutations. In addition, we were able to speculate on the probable physiological consequences of such mutations. Finally, we conclude by stressing the importance of familial screening in order to reduce the incidence of anesthetic complications associated with these conditions.